nsv3912942
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:140,148
- Description:GRCh38/hg38 6p21.32(chr6:32444210-32584357)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 6417 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 6417 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 4064 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3912942 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 32,444,210 | 32,584,357 |
| nsv3912942 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 32,411,987 | 32,552,134 |
| nsv3912942 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 32,519,965 | 32,660,112 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15135290 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000136195.4, VCV000146974.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15135290 | Submitted genomic | NC_000006.12:g.(?_ 32444210)_(3258435 7_?)dup | GRCh38 (hg38) | NC_000006.12 | Chr6 | 32,444,210 | 32,584,357 |
| nssv15135290 | Submitted genomic | NC_000006.11:g.(?_ 32411987)_(3255213 4_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 32,411,987 | 32,552,134 |
| nssv15135290 | Submitted genomic | NC_000006.10:g.(?_ 32519965)_(3266011 2_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 32,519,965 | 32,660,112 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15135290 | GRCh37: NC_000006.11:g.(?_32411987)_(32552134_?)dup, GRCh38: NC_000006.12:g.(?_32444210)_(32584357_?)dup, NCBI36: NC_000006.10:g.(?_32519965)_(32660112_?)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000136195.4, VCV000146974.2 | 3 |